ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1224A>C (p.Pro408=)

gnomAD frequency: 0.00435  dbSNP: rs7830178
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234038 SCV000287296 benign Atrioventricular septal defect 4 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617413 SCV000736187 likely benign Cardiovascular phenotype 2017-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001552719 SCV001773459 likely benign not provided 2021-02-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18055909)
Genetic Services Laboratory, University of Chicago RCV001818595 SCV002071452 benign not specified 2018-06-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552719 SCV005220547 likely benign not provided criteria provided, single submitter not provided

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